Number of the records: 1  

de Langeovej syndróm

  1. Record numberd003635
    Date06.06.2025
    TypeM - MESH
    Topical termde Langeovej syndróm
    Other termEnglish (Pseudonym) Brachmann-De Lange Syndrome
    English (Pseudonym) Cornelia De Lange Syndrome
    Slovak (Pseudonym) Brachmannov-de Langeovej syndróm
    Slovak (Pseudonym) syndróm Cornelie de Langeovej
    See also(Skutočné meno) postihnutie intelektuálne
    UDCC10.597.606.360.210C16.131.077.272C16.131.260.210C16.320.180.210
    NoteA syndrome characterized by growth retardation, severe MENTAL RETARDATION, short stature, a low-pitched growling cry, brachycephaly, low-set ears, webbed neck, carp mouth, depressed nasal bridge, bushy eyebrows meeting at the midline, hirsutism, and malformations of the hands. The condition may occur sporadically or be associated with an autosomal dominant pattern of inheritance or duplication of the long arm of chromosome 3. (Menkes, Textbook of Child Neurology, 5th ed, p231)
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Number of the records: 1  

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